Sickle Cell Anemia

Sickle cell anemia is an inherited blood disorder that affects your red blood cells and causes severe anemia. Healthcare providers may refer to these abnormal cells as sickled cells. Sickle cell anemia is the most common and severe type of sickle cell disease.

Normally, your red blood cells are round, flexible disks. They can slide through your blood vessels to carry oxygen to your organs and tissues. Sickled cells are shaped like crescents or sickles and are stiff and sticky. The abnormal shape and form mean sickled cells get stuck in your blood vessels.

Symptoms of sickle cell anemia

Common symptoms include:

• Fatigue
• Fussiness in babies
• Frequent infections
• Painful swelling in hands and feet
• Severe pain in your arms, back, chest and legs
• Yellow-colored eyes and skin from jaundice

The disease’s symptoms typically start when babies are 6 to 9 months old. People’s symptoms may get worse over time as their bodies make more sickled cells.

Sickle cell anemia causes

This disease happens when you inherit genetic variations (changes) that affect the HBB gene. You may be born with sickle cell anemia if both your biological parents carry the changed gene.

The HBB gene gives instructions on how to make beta-globin, which is part of your hemoglobin protein. Hemoglobin helps your red blood cells carry oxygen throughout your body and remove carbon dioxide.

The genetic change means your tissues and organs don’t get enough oxygen. They can’t function without oxygen.

Complications

Sickle cell anemia can cause serious and sometimes life-threatening complications. Complications may include:

• Acute chest syndrome (ACS), which can happen when sickled cells clump together to clog blood vessels in your chest
• Vaso-occlusive crisis (VOC), or acute pain crisis, which may cause excruciating pain in your arms, belly, legs and lower back
• Damage to your kidneys, liver and lungs from lack of oxygen
• Depression and anxiety if you have VOC and need opioid medication (research shows there’s a stigma attached to needing opioids to manage pain)
• Detached retinas if sickled cells block blood vessels in your retina
• Priapism (painful erections) from blocked blood vessels in your penis
• Sickle cell crisis if sickled cells get stuck in a blood vessel and stop blood flow
• Splenic sequestration, which may happen if sickled cells are stuck in your spleen and affect blood flow (splenic sequestration often causes acute anemia)
• Stroke, which can happen to anyone with sickle cell anemia, including very young children

How doctors diagnose this condition

Healthcare providers may do physical exams that include checking your spleen and liver. They’ll ask about your symptoms, particularly pain in your arms, legs or belly. They may ask about your medical history, including infections. They may order the following tests:

• Complete blood count (CBC), including tests to check your red blood cells
• Hemoglobin electrophoresis to find and measure abnormal hemoglobin
• Genetic tests to look for the genetic variation that causes sickle cell anemia

How is sickle cell anemia treated?

Your treatment depends on your symptoms and your overall health. Common treatments include antibiotics for infections and blood transfusions. Some people may be treated with gene therapy.

There are several medications that can ease sickle cell anemia symptoms and keep the disease from getting worse:

• Hydroxyurea (Droxia^®, Hydrea ^®, Siklos^®, Mylocel^®) is an anticancer medication that eases symptoms and reduces how often you have serious complications. It’s a treatment for infants ages 6 to 9 months, children and adults.
• L-glutamine therapy (Endari^®) keeps sickled cells from becoming even more abnormal. It’s a treatment for children age 5 and older and adults
• Crizanlizumab-tmca (Adakveo^®) reduces how often you may have VOC/acute pain crisis. It’s a treatment for people age 16 and older.

Researchers are testing medications that may reduce how often you have VOC. These newer therapies may also improve red blood cell health and metabolism. They may increase fetal hemoglobin, which would reduce red blood cell sickling.

Is there a cure for sickle cell anemia?

An allogeneic stem cell transplant is the only cure. You may have this procedure if you have acute chest syndrome, frequent acute pain crises or stroke.

When should I seek care?

Sickle cell anemia may cause serious medical conditions. Go to the emergency room if you have the following:

• Anemia symptoms like extreme fatigue, shortness of breath or irregular heartbeat
• Fever of more than 101.3 degrees Fahrenheit (or 38.5 degrees Celsius)
• Chest pain
• Cough

The disease also increases your risk of having a stroke. A stroke is a medical emergency. If you have the symptoms below or are with someone who’s having symptoms, call 911 (or your local emergency services number) right away:

• One-sided weakness or paralysis, including facial droop
• Balance or coordination issues
• Blurred or double vision
• Confusion
• Slurred speech

What can I expect if I have, or my child has, sickle cell anemia?

This is a chronic disease. This means you or your child likely will always need medical care to manage the disease’s symptoms. The care you’ll need depends on your symptoms. Everyone’s situation is a bit different, so ask your healthcare provider what you can expect. They know your overall health and how sickle cell anemia affects you, so they’re your best source of information.

Does sickle cell anemia get worse with age?

As you get older, you may develop different and more serious medical problems that happen when organ tissues don’t receive enough oxygen. People with sickle cell anemia are at an increased risk of stroke. The disease also increases the risk of damage to their lungs, kidneys, spleen, eyes and liver — among other organs.

What is the life expectancy for someone who has this condition?

Thanks to early diagnosis and treatment to ease complications, people with this disease may live into their 50s. Some people may live much longer. If you have questions about how long you may live, ask your healthcare provider. They’ll explain how the disease may affect how long you’ll live.

Is there anything I can do to feel better?

Sickle cell anemia is a challenging condition that can affect you in many ways. Some suggested ways to feel better include:

• Manage your pain: This disease can hurt. Pain management specialists can recommend ways to manage pain.
• Get mental health support: Unfortunately, there are stigmas associated with sickle cell anemia that may cause depression or anxiety. Talking to a mental health professional may help.
• Manage your environment: Avoid situations where you’re too hot or too cold. People who have sickle cell anemia need to keep their body temperature from going too high or too low to avoid VOC/acute pain crises. You should also get plenty of fluids and rest.
• Look for clinical trials: Healthcare providers and researchers are constantly testing new treatments. Joining a clinical trial may be a way to obtain new medication and treatment. Ask your healthcare provider for help finding a clinical trial.